Incidental Mutation 'R7510:Nrf1'
ID582022
Institutional Source Beutler Lab
Gene Symbol Nrf1
Ensembl Gene ENSMUSG00000058440
Gene Namenuclear respiratory factor 1
SynonymsD6Ertd415e
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R7510 (G1)
Quality Score225.009
Status Validated
Chromosome6
Chromosomal Location30047988-30153458 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 30151634 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 490 (T490I)
Ref Sequence ENSEMBL: ENSMUSP00000110867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115208] [ENSMUST00000115209] [ENSMUST00000115211] [ENSMUST00000115212] [ENSMUST00000167972]
Predicted Effect probably benign
Transcript: ENSMUST00000115208
SMART Domains Protein: ENSMUSP00000110863
Gene: ENSMUSG00000058440

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
low complexity region 39 57 N/A INTRINSIC
Pfam:Nrf1_DNA-bind 75 285 1.6e-132 PFAM
low complexity region 377 394 N/A INTRINSIC
low complexity region 409 423 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000115209
AA Change: T490I

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110864
Gene: ENSMUSG00000058440
AA Change: T490I

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
low complexity region 39 57 N/A INTRINSIC
Pfam:Nrf1_DNA-bind 75 285 2.9e-132 PFAM
low complexity region 377 394 N/A INTRINSIC
low complexity region 409 423 N/A INTRINSIC
Pfam:Nrf1_activ_bdg 449 503 1.2e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115211
AA Change: T490I

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110866
Gene: ENSMUSG00000058440
AA Change: T490I

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
low complexity region 39 57 N/A INTRINSIC
Pfam:Nrf1_DNA-bind 75 285 2.9e-132 PFAM
low complexity region 377 394 N/A INTRINSIC
low complexity region 409 423 N/A INTRINSIC
Pfam:Nrf1_activ_bdg 449 503 1.2e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115212
AA Change: T490I

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110867
Gene: ENSMUSG00000058440
AA Change: T490I

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
low complexity region 39 57 N/A INTRINSIC
Pfam:Nrf1_DNA-bind 75 285 2.9e-132 PFAM
low complexity region 377 394 N/A INTRINSIC
low complexity region 409 423 N/A INTRINSIC
Pfam:Nrf1_activ_bdg 449 503 1.2e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000167972
AA Change: T490I

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000130108
Gene: ENSMUSG00000058440
AA Change: T490I

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
low complexity region 39 57 N/A INTRINSIC
Pfam:Nrf1_DNA-bind 75 285 2.9e-132 PFAM
low complexity region 377 394 N/A INTRINSIC
low complexity region 409 423 N/A INTRINSIC
Pfam:Nrf1_activ_bdg 449 503 1.2e-9 PFAM
Meta Mutation Damage Score 0.3425 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.0%
Validation Efficiency 97% (65/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that homodimerizes and functions as a transcription factor which activates the expression of some key metabolic genes regulating cellular growth and nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication. The protein has also been associated with the regulation of neurite outgrowth. Alternative splicing results in multiple transcript variants. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene and for "nuclear factor (erythroid-derived 2)-like 1" which has an official symbol of NFE2L1. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality between E3.5 and E6.5 associated with decreased cellular proliferation and mitochondrial DNA content. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2b1 C T 10: 98,993,896 R320C probably benign Het
Bend4 A G 5: 67,427,384 F66L unknown Het
Brca2 T C 5: 150,536,691 V477A possibly damaging Het
Brms1l A T 12: 55,845,322 K134* probably null Het
Catsper1 A T 19: 5,339,550 T498S probably benign Het
Ccdc177 C A 12: 80,757,683 V606L unknown Het
D030056L22Rik G T 19: 18,713,489 A56S possibly damaging Het
Disp1 T C 1: 183,088,411 N815S probably damaging Het
Dsc2 C T 18: 20,032,274 G881R possibly damaging Het
Fancf A G 7: 51,862,205 V17A probably damaging Het
Fastkd2 T A 1: 63,737,789 H361Q possibly damaging Het
Furin A G 7: 80,393,585 S293P probably damaging Het
Ghsr A T 3: 27,372,374 D193V probably benign Het
Gm14403 T A 2: 177,508,610 N116K probably benign Het
Gpr31b A G 17: 13,051,670 L204P probably damaging Het
Hexim1 A G 11: 103,117,241 E107G probably benign Het
Hspa14 T C 2: 3,498,122 S212G probably benign Het
Il18r1 T A 1: 40,474,875 H80Q probably benign Het
Itpr3 A G 17: 27,089,039 T267A probably damaging Het
Kidins220 T A 12: 24,992,269 H146Q possibly damaging Het
Larp4 T C 15: 99,993,377 F228L probably benign Het
Ltbp1 T A 17: 75,352,717 V1288E probably damaging Het
Madd T C 2: 91,177,976 T194A possibly damaging Het
Mlana G A 19: 29,704,672 G42S probably benign Het
Mlxipl A G 5: 135,133,118 E548G possibly damaging Het
Mmab A T 5: 114,435,222 C228S probably benign Het
Mmp1a TG TGG 9: 7,465,083 probably null Het
Numbl A G 7: 27,271,987 probably null Het
Olfr1014 T A 2: 85,776,809 V75D probably damaging Het
Olfr111 T A 17: 37,530,589 I204N probably damaging Het
Olfr1148 T A 2: 87,833,528 I163K probably damaging Het
Olfr1350 C T 7: 6,569,961 probably benign Het
Olfr155 A G 4: 43,854,482 T58A probably benign Het
Olfr803 G T 10: 129,691,920 N40K probably damaging Het
Papln G A 12: 83,772,173 D96N probably damaging Het
Pcdhb14 T C 18: 37,449,592 Y584H probably damaging Het
Pde7b T C 10: 20,413,015 D310G possibly damaging Het
Plin5 T A 17: 56,113,975 H230L probably damaging Het
Ppp1r13l A C 7: 19,368,801 E47A possibly damaging Het
Prdm5 C T 6: 65,927,992 H536Y probably damaging Het
Prickle2 T C 6: 92,376,470 R728G possibly damaging Het
Prkca A T 11: 107,983,994 V374E possibly damaging Het
Prss3 A T 6: 41,375,110 L73* probably null Het
Prss51 G A 14: 64,096,040 D33N probably damaging Het
Rfwd3 A G 8: 111,280,027 V479A probably damaging Het
Rpl36a-ps1 G A 14: 98,994,230 T24I probably benign Het
Rps6ka5 T C 12: 100,616,068 I182V possibly damaging Het
Saa2 T A 7: 46,753,509 D61E probably damaging Het
Samd3 A T 10: 26,230,108 I22F probably benign Het
Sap130 C T 18: 31,667,004 P403L probably damaging Het
Sap130 A G 18: 31,711,215 T813A probably damaging Het
Scfd2 A G 5: 74,212,327 F629S probably damaging Het
Sec61a1 A T 6: 88,512,603 F119I probably benign Het
Serpinb9 T A 13: 33,010,785 F175I probably damaging Het
Slc12a3 G T 8: 94,365,849 C966F probably damaging Het
Sptbn4 A G 7: 27,428,268 V169A probably benign Het
Synj1 A G 16: 90,938,677 S1463P probably benign Het
Tfec T A 6: 16,835,233 H182L probably benign Het
Tigd5 T C 15: 75,910,419 V210A probably benign Het
Tssc4 G A 7: 143,069,981 E9K possibly damaging Het
Txk C G 5: 72,736,383 C18S unknown Het
Uaca G A 9: 60,850,205 probably null Het
Vmn2r1 A C 3: 64,086,501 K89N probably damaging Het
Zfp160 G A 17: 21,026,393 E402K probably benign Het
Other mutations in Nrf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00906:Nrf1 APN 6 30098478 missense probably damaging 1.00
IGL00909:Nrf1 APN 6 30098478 missense probably damaging 1.00
IGL01556:Nrf1 APN 6 30126367 intron probably benign
IGL02371:Nrf1 APN 6 30118991 missense possibly damaging 0.90
IGL03345:Nrf1 APN 6 30089948 missense probably damaging 0.99
R1892:Nrf1 UTSW 6 30144788 missense probably null
R4097:Nrf1 UTSW 6 30151672 nonsense probably null
R5347:Nrf1 UTSW 6 30118968 missense probably benign 0.05
R5607:Nrf1 UTSW 6 30126246 missense probably damaging 1.00
R5654:Nrf1 UTSW 6 30117062 missense probably benign 0.22
R5851:Nrf1 UTSW 6 30089976 missense possibly damaging 0.92
R6470:Nrf1 UTSW 6 30102200 missense probably damaging 0.99
R7106:Nrf1 UTSW 6 30102184 missense probably benign
R7334:Nrf1 UTSW 6 30118971 missense probably benign 0.30
R7476:Nrf1 UTSW 6 30116272 missense probably damaging 1.00
R7625:Nrf1 UTSW 6 30116231 missense probably benign 0.20
R7882:Nrf1 UTSW 6 30090300 missense probably benign 0.01
R7965:Nrf1 UTSW 6 30090300 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGAAGGACCAGAGCCAGTTG -3'
(R):5'- GTGATTCCAAAATCTGCTGCC -3'

Sequencing Primer
(F):5'- AGAGCCAGTTGCCCGAG -3'
(R):5'- GATTCCAAAATCTGCTGCCTTTCTTC -3'
Posted On2019-10-17